Over 30 million Europeans are affected by a rare disease at some point in their lives. Although individually uncommon, rare diseases collectively affect as many as 7% of the population or 1 in 17 people. 80% of these diseases are of genètic origin. It is essential to use DNA and RNA sequencing and analysis to identify genetic variants that give rise to rare diseases in order to advance research and treatments in this field.
Recent advances in genomics and technology are having big impact in the care of patients with rare diseases. It is necessary that cutting-edge genomic research translates into clinical care helping to understand the biology of rare diseases. Given this scenario, the CNAG-CRG, as one of the top genome centers in Europe, is getting more and more involved in rare disease research.
In this symposium, coorganized by the Biomedical Research Institute Fundación Jimenez Diaz (IIS-FJD, UAM), the CIBER of Rare Diseases (CIBERER) and CNAG-CRG, we want to bring together scientists of different fields who have carried out rare diseases analysis projects and who will present their latest research discoveries and ideas.
It will take place the 5th July at the Aula Magna in the Fundación Jiménez Díaz (Madrid). Participation is free of charge. However, REGISTRATION IS REQUIRED since space is limited. The opening will be by Jesús Fernández Crespo, director of the Instituto de Salud Carlos III and these are the confirmed Speakers: